Canonical Allele Identifier: CA10021181
Gene: PIGP HGNC NCBI
MyVariant.info:
GRCh38 chr21:g.37072514A>G
GRCh37 chr21:g.38444814A>G
Revel Score:
ENST00000464265 0.396
ENST00000360525 (MANE Select) 0.396
ENST00000399102 0.396
ENST00000399103 0.396
gnomAD v2:
21:38444814 A / G
gnomAD v3:
21:37072514 A / G
gnomAD v4:
chr21-37072514-A-G
Joint Max Group AF 0.00007656 (NFE)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00007861 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.37072514A>G , CM000683.2:g.37072514A>G GRCh38
NC_000021.8:g.38444814A>G , CM000683.1:g.38444814A>G GRCh37
NC_000021.7:g.37366684A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360525.9:c.2T>C MANE Select ENSP00000353719.3:p.Met1Thr
ENST00000329667.7:n.24T>C
ENST00000360525.8:c.2T>C ENSP00000353719.3:p.Met1Thr
ENST00000399098.5:c.-243T>C ENSP00000382049.1:n.-243T>C
ENST00000399102.5:c.2T>C ENSP00000382053.1:p.Met1Thr
ENST00000399103.5:c.2T>C ENSP00000382054.1:p.Met1Thr
ENST00000430792.1:c.-243T>C ENSP00000388372.1:n.-243T>C
ENST00000464265.5:c.74T>C ENSP00000420037.1:p.Met25Thr
ENST00000479152.1:n.210T>C
NM_153681.2:c.74T>C NP_710148.1:p.Met25Thr
NM_153682.2:c.2T>C NP_710149.1:p.Met1Thr
NR_028352.1:n.183T>C
XM_005260990.3:c.2T>C XP_005261047.1:p.Met1Thr
XM_011529595.1:c.2T>C XP_011527897.1:p.Met1Thr
XM_011529596.1:c.2T>C XP_011527898.1:p.Met1Thr
NM_001320480.1:c.2T>C NP_001307409.1:p.Met1Thr
NM_016430.3:c.-243T>C NP_057514.2:n.-243T>C
XM_017028365.1:c.-243T>C XP_016883854.1:n.-243T>C
NM_001320480.2:c.2T>C NP_001307409.1:p.Met1Thr
NM_016430.4:c.-243T>C NP_057514.2:n.-243T>C
NM_153682.3:c.2T>C MANE Select NP_710149.1:p.Met1Thr
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